Tao Huimin, Zhang Lin, Tan Fangfang, Han Yu, Wang Xuezhen, Wu Jiebin, Zhai Jingfang
Xuzhou Central Hospital, Xuzhou Clinical College of Xuzhou Medical University, Xuzhou, China.
Key Laboratory of Brain Diseases Bioinformation of Xuzhou Medical University, Xuzhou, China.
Front Genet. 2023 Sep 15;14:1186660. doi: 10.3389/fgene.2023.1186660. eCollection 2023.
Fetal ventriculomegaly (VM) is associated with neurodevelopmental disorders, partly caused by genetic factor. To systematically investigate the genetic etiology of fetal VM and related pregnancy outcomes in different subgroups: IVM (isolated VM) and NIVM (non-isolated VM); unilateral and bilateral VM; mild, moderate, and severe VM, a retrospective study including 131 fetuses with VM was carried out from April 2017 to August 2022. 82 cases underwent amniocentesis or cordocentesis, of whom 8 cases (9.8%) were found chromosomal abnormalities by karyotyping. Meanwhile, additional 8 cases (15.7%) with copy number variations (CNVs) were detected by copy number variation sequencing (CNV-seq). The detection rate (DR) of chromosomal abnormalities was higher in NIVM, bilateral VM and severe VM groups. And CNVs frequently occurred in NIVM, bilateral VM and moderate VM groups. In the NIVM group, the incidence of chromosomal aberrations and CNVs in multiple system anomalies (19.0%, 35.7%) was higher than that in single system anomalies (10.0%, 21.1%). After dynamic ultrasound follow-up, 124 cases were available in our cohort. 12 cases were further found other structural abnormalities, and lateral ventricular width was found increased in 8 cases and decreased in 15 cases. Meanwhile, 82 cases underwent fetal brain MRI, 10 cases of brain lesions and 11 cases of progression were additionally identified. With the involvement of a multidisciplinary team, 45 cases opted for termination of pregnancy (TOP) and 79 cases were delivered with live births. One infant death and one with developmental retardation were finally found during postnatal follow-ups. CNV-seq combined with karyotyping could effectively improve the diagnostic rate in fetuses with VM. Meanwhile, dynamic ultrasound screening and multidisciplinary evaluation are also essential for assessing the possible outcomes of fetuses with VM.
胎儿脑室扩大（VM）与神经发育障碍有关，部分原因是遗传因素。为了系统地研究不同亚组胎儿VM的遗传病因及相关妊娠结局：孤立性VM（IVM）和非孤立性VM（NIVM）；单侧和双侧VM；轻度、中度和重度VM，我们进行了一项回顾性研究，纳入了2017年4月至2022年8月期间131例患有VM的胎儿。82例接受了羊膜腔穿刺术或脐血穿刺术，其中8例（9.8%）通过核型分析发现染色体异常。同时，通过拷贝数变异测序（CNV-seq）又检测出另外8例（15.7%）存在拷贝数变异（CNV）。染色体异常的检出率在NIVM、双侧VM和重度VM组中较高。而CNV在NIVM、双侧VM和中度VM组中频繁出现。在NIVM组中，多系统异常中染色体畸变和CNV的发生率（19.0%，35.7%）高于单系统异常（10.0%，21.1%）。经过动态超声随访，我们的队列中有124例可供分析。另外发现12例存在其他结构异常，8例侧脑室宽度增加，15例侧脑室宽度减小。同时，82例接受了胎儿脑MRI检查，又发现10例脑病变和11例病情进展。在多学科团队的参与下，45例选择终止妊娠（TOP），79例分娩活婴。产后随访最终发现1例婴儿死亡和1例发育迟缓。CNV-seq联合核型分析可以有效提高VM胎儿的诊断率。同时，动态超声筛查和多学科评估对于评估VM胎儿的可能结局也至关重要。
